منابع مشابه
Pyrin Q148 mutation and familial Mediterranean fever.
Sir, Familial Mediterranean fever (FMF) is an auto-inflammatory disease with an autosomal recessive inheritance. Defects in the protein pyrin cause the characteristic attacks of the disease. 1,2 More than 20 mutations have been identified in the gene coding pyrin. Booth et al. 3 recently presented their studies in an interesting mutation, the E148Q mutation, in different populations. They have ...
متن کاملUpdate on Pyrin Functions and Mechanisms of Familial Mediterranean Fever
Mutations in the MEFV gene, which encodes the protein named pyrin (also called marenostrin or TRIM20), are associated with the autoinflammatory disease familial Mediterranean fever (FMF). Recent genetic and immunologic studies uncovered novel functions of pyrin and raised several new questions in relation to FMF pathogenesis. The disease is clinically heterogeneous reflecting the complexity and...
متن کاملFamilial Mediterranean fever associated pyrin mutations in Greece.
OBJECTIVE To search for pyrin mutations associated with familial Mediterranean fever (FMF) in Greece. PATIENTS AND METHODS 62 patients fulfilling the Tel Hashomer diagnostic criteria for definite (33) or probable (29) FMF diagnosis were studied. Eight point mutations of pyrin gene were tested by standard methods. Of the 62 patients tested, 48 were Greek, four were Jewish, seven were Armenian,...
متن کاملThe death-domain fold of the ASC PYRIN domain, presenting a basis for PYRIN/PYRIN recognition.
The PYRIN domain is a conserved sequence motif identified in more than 20 human proteins with putative functions in apoptotic and inflammatory signalling pathways. The three-dimensional structure of the PYRIN domain from human ASC was determined by NMR spectroscopy. The structure determination reveals close structural similarity to death domains, death effector domains, and caspase activation a...
متن کاملFamilial Mediterranean fever mutations lift the obligatory requirement for microtubules in Pyrin inflammasome activation.
Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease worldwide. It is caused by mutations in the inflammasome adaptor Pyrin, but how FMF mutations alter signaling in FMF patients is unknown. Herein, we establish Clostridium difficile and its enterotoxin A (TcdA) as Pyrin-activating agents and show that wild-type and FMF Pyrin are differentially controlled by ...
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ژورنال
عنوان ژورنال: Nature Reviews Molecular Cell Biology
سال: 2002
ISSN: 1471-0072,1471-0080
DOI: 10.1038/nrm764